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开放性神经管缺陷筛查

Screening for Open Neural Tube Defects.

作者信息

Krantz David A, Hallahan Terrence W, Carmichael Jonathan B

机构信息

Eurofins/NTD, 80 Ruland Road, Suite 1, Melville, NY 11747, USA.

Eurofins/NTD, 80 Ruland Road, Suite 1, Melville, NY 11747, USA.

出版信息

Clin Lab Med. 2016 Jun;36(2):401-6. doi: 10.1016/j.cll.2016.01.004. Epub 2016 Mar 2.

Abstract

Biochemical prenatal screening was initiated with the use of maternal serum alpha fetoprotein to screen for open neural tube defects. Screening now includes multiple marker and sequential screening protocols involving serum and ultrasound markers to screen for aneuploidy. Recently cell-free DNA screening for aneuploidy has been initiated, but does not screen for neural tube defects. Although ultrasound is highly effective in identifying neural tube defects in high-risk populations, in decentralized health systems maternal serum screening still plays a significant role. Abnormal maternal serum alpha fetoprotein alone or in combination with other markers may indicate adverse pregnancy outcome in the absence of open neural tube defects.

摘要

生化产前筛查始于使用母体血清甲胎蛋白来筛查开放性神经管缺陷。目前的筛查包括多种标志物和序贯筛查方案,涉及血清和超声标志物以筛查非整倍体。最近已开始进行无细胞DNA非整倍体筛查,但不筛查神经管缺陷。尽管超声在识别高危人群中的神经管缺陷方面非常有效,但在分散的卫生系统中,母体血清筛查仍发挥着重要作用。单独或与其他标志物联合出现的母体血清甲胎蛋白异常,可能在无开放性神经管缺陷的情况下提示不良妊娠结局。

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